HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4460&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4420&ordering=synonyms",
"results": [
{
"identifier": "Immunodeficiency, common variable, 8, with autoimmunity.",
"acronym": "CVID8.",
"accession": "DI-03490",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 7.",
"acronym": "CVID7.",
"accession": "DI-03489",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2C.",
"acronym": "CMD2C.",
"accession": "DI-05389",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2B.",
"acronym": "CMD2B.",
"accession": "DI-03469",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency, common variable, 15.",
"acronym": "CVID15.",
"accession": "DI-06822",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "An autosomal dominant immunologic disorder resulting in recurrent severe infections since early childhood or infancy, and characterized by hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. CVID15 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 14.",
"acronym": "CVID14.",
"accession": "DI-05140",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 13.",
"acronym": "CVID13.",
"accession": "DI-04688",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers. ",
"keywords": null
},
{
"identifier": "Cyanosis transient neonatal.",
"acronym": "TNCY.",
"accession": "DI-03171",
"synonyms": null,
"cross_references": "MeSH; D003490.",
"definition": "A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1PP.",
"acronym": "CMD1PP.",
"accession": "DI-06707",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1PP inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1P.",
"acronym": "CMD1P.",
"accession": "DI-00222",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Alternating hemiplegia of childhood 1.",
"acronym": "AHC1.",
"accession": "DI-00084",
"synonyms": null,
"cross_references": "MeSH; D006429.",
"definition": "A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. ",
"keywords": null
},
{
"identifier": "Immunodeficiency due to defect in MAPBP-interacting protein.",
"acronym": "ID-MAPBPIP.",
"accession": "DI-01810",
"synonyms": null,
"cross_references": "MedGen; C1835829.",
"definition": "This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias.",
"acronym": "IMD99.",
"accession": "DI-06402",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1OO.",
"acronym": "CMD1OO.",
"accession": "DI-06603",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1OO inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency 97 with autoinflammation.",
"acronym": "IMD97.",
"accession": "DI-06382",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 96.",
"acronym": "IMD96.",
"accession": "DI-06359",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 95.",
"acronym": "IMD95.",
"accession": "DI-06358",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood, and impaired interferon production during viral infection. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 94 with autoinflammation and dysmorphic facies.",
"acronym": "IMD94.",
"accession": "DI-06346",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant disorder characterized by onset in early infancy, lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1NN.",
"acronym": "CMD1NN.",
"accession": "DI-04172",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency 93 and hypertrophic cardiomyopathy.",
"acronym": "IMD93.",
"accession": "DI-06317",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. ",
"keywords": "KW-0122:Cardiomyopathy.; "
}
]
}